STURGE-WEBER SYNDROME

OVERVIEW

Sturge-Weber syndrome is characterized by angiomas of the face, eye and leptomeninges. It is caused by an acquired somatic gene abnormality resulting in a gain of function in the GNAQ gene, in progenitor vascular cells.

Clinical context

Sturge-Weber syndrome:

a facial port-wine stain, present at birth, in the
distribution of the ophthalmic branch of the trigeminal nerve
(this may be absent in 15% of Sturge-Weber syndrome patients);

leptomeningeal angioma ipsilateral to the side of the
port-wine stain, over occipital and posterior parietal regions
predominantly, causing ischemia, atrophy and calcification in
the affected cortex (resulting in seizures and risk of
progressive contralateral hemiparesis and homonymous
hemianopia); and

Seizures are seen in 75-90% of patients, usually commencing under
12 months of age. Patients with Sturge-Weber syndrome are at risk of
stroke, due to impaired venous drainage caused by leptomeningeal
angiomas. Risk of stroke is increased by prolonged seizures or
status epilepticus. Communicating hydrocephalus may occur from
increased venous pressure. Headache is common. Bilateral or lower
facial port wine stain can occur, seen in 15% of patients.

CAUTION developmental and
cognitive outcome is worse in children with uncontrolled seizures in
early life, especially if epileptic
spasms or generalized
seizure types appear, therefore proactive seizure control is
important, this may include epilepsy surgery, if seizures are not
controlled with medication.